Canonical Allele Identifier: CA360370596

Gene: ADGRV1

Linked Data

• gnomAD v4: 5-90692617-C-A
• MyVariant Identifiers: chr5:g.89988434C>A (hg19) ; chr5:g.90692617C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.90692617C>A , CM000667.2:g.90692617C>A	GRCh38
NC_000005.9:g.89988434C>A , CM000667.1:g.89988434C>A	GRCh37
NC_000005.8:g.90024190C>A	NCBI36
NG_007083.1:g.138818C>A
NG_007083.2:g.168274C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405460.9:c.6964C>A MANE Select	ENSP00000384582.2:p.Gln2322Lys
ENST00000639431.1:c.265+16408C>A	ENSP00000491057.1:n.265+16408C>A
ENST00000639473.1:n.2423C>A
ENST00000640012.1:c.771C>A
ENST00000640374.1:n.108C>A
ENST00000640403.1:c.4255C>A	ENSP00000492531.1:p.Gln1419Lys
ENST00000640779.1:c.1693C>A
ENST00000405460.6:c.6964C>A	ENSP00000384582.2:p.Gln2322Lys
NM_032119.3:c.6964C>A	NP_115495.3:p.Gln2322Lys
NR_003149.1:n.6977C>A
XM_011543675.1:c.6961C>A	XP_011541977.1:p.Gln2321Lys
XM_011543676.1:c.6883C>A	XP_011541978.1:p.Gln2295Lys
XM_011543677.1:c.4267C>A	XP_011541979.1:p.Gln1423Lys
XM_011543678.1:c.6964C>A	XP_011541980.1:p.Gln2322Lys
XM_011543679.1:c.6964C>A	XP_011541981.1:p.Gln2322Lys
NM_032119.4:c.6964C>A MANE Select	NP_115495.3:p.Gln2322Lys
XM_017009963.2:c.6964C>A	XP_016865452.1:p.Gln2322Lys
XM_017009964.2:c.6961C>A	XP_016865453.1:p.Gln2321Lys
XM_017009965.1:c.6961C>A	XP_016865454.1:p.Gln2321Lys
XM_017009966.2:c.6883C>A	XP_016865455.1:p.Gln2295Lys
XM_017009967.1:c.6868C>A	XP_016865456.1:p.Gln2290Lys
XM_017009968.2:c.6964C>A	XP_016865457.1:p.Gln2322Lys
XM_017009969.2:c.6964C>A	XP_016865458.1:p.Gln2322Lys
XM_017009970.2:c.6964C>A	XP_016865459.1:p.Gln2322Lys
XM_017009971.2:c.6964C>A	XP_016865460.1:p.Gln2322Lys
XM_017009972.1:c.82C>A	XP_016865461.1:p.Gln28Lys
XM_017009973.1:c.82C>A	XP_016865462.1:p.Gln28Lys
XM_017009974.2:c.6964C>A	XP_016865463.1:p.Gln2322Lys
NR_003149.2:n.6980C>A